Inaugural dropped head syndrome and camptocormia in inflammatory myopathies: a retrospective study.

OBJECTIVES: Inaugural axial muscle involvement, defined as dropped head syndrome (DHS) and/or camptocormia (CC), is poorly described in inflammatory myopathies (IM). This study aimed to further characterize IM patients with inaugural DHS/CC, their outcome and care management. METHODS: This retrospective study included IM patients diagnosed between 2000 and 2021. The main inclusion criterion was IM revealed by axial muscle deficit (DHS/CC). RESULTS: Twenty-seven patients were included; median (IQR) age at first symptoms was 66.0 years (55.5-75.0); 21 were female (77.8%). There were nine IBM, 33.3%, nine overlap myositis (OM, 33.3%), five DM, 18.5%, two immune checkpoint inhibitor-related myositis (7.4%), one focal myositis (3.7%) and one myositis with anti-Hu antibodies (3.7%). Age at first symptoms was ≤70 years in 16 patients (59.3%), including all DM patients and 8/9 OM patients (88.9%). In this group, partial remission of the disease was obtained in 9/16 (56.3%) and complete remission in 1/16 patients (6.3%); regression of DHS/CC was achieved in 3/16 patients (18.8%). Conversely, in the group of 11 patients aged >70 years at first symptoms, there were eight IBM (72.7%). Partial remission was obtained in 5/11 patients (45.5%), the disease was stable in 6/11 patients (54.5%); no complete remission was obtained nor regression of DHS/CC. CONCLUSION: The analysis of IM patients with inaugural DHS/CC delineates two groups of patients according to the age at first symptoms in terms of clinical and outcome specificities, and proposes an adapted diagnostic and care management approach to prevent long-term complications.

The CAPN3 p.Lys 254del variant is not always associated with dominant CAPN3-related muscular dystrophy.

INTRODUCTION/AIMS: Limb-girdle muscular dystrophy R1 (LGMDR1) calpain 3-related usually presents as a recessively transmitted weakness of proximal limb-girdle muscles due to pathogenic variants in the CAPN3 gene. Pathogenic variants in this gene have also been found in patients with an autosomal dominantly inherited transmission pattern (LGMDD4). The mechanism underlying this difference in transmission patterns has not yet been elucidated. Camptocormia, progressive limb weakness, myalgia, back pain, and increased CK levels are common clinical features associated with dominant forms. The p.Lys254del pathogenic variant was associated with camptocormia in two LGMDD4 families. This study aimed to present carriers found in recessively transmitted LGMDR1 families bearing the p.Lys254del variant that do not show muscle weakness. METHODS: DNA sequencing was performed on exon 5 of CAPN3 in family members to establish the carrier status of the pathogenic variant. They were evaluated clinically and MRI was performed when available. RESULTS: Two families presented with the p.Lys254del pathogenic variant in a homozygous or compound heterozygous state. Family members carrying only the pathogenic variant in the heterozygous state did not demonstrate the myopathic characteristics described in dominant patients. Camptocormia and other severe clinical symptoms were not observed. DISCUSSION: We conclude that the p.Lys254del pathogenic variant per se cannot be solely responsible for camptocormia in dominant patients. Other undisclosed factors may regulate the phenotype associated with the dominant inheritance pattern in CAPN3 pathogenic variant carriers.

Axial postural abnormalities and pain in Parkinson's disease.

Axial postural abnormalities and pain are two main determinants of poor quality of life in patients with Parkinson's disease (PD). Indeed, a detailed characterization of pain and other non-motor symptoms in patients with PAs has not been provided yet. The aim of this study is to assess the phenomenology of pain and other non-motor symptoms in PD patients with Pisa syndrome and camptocormia compared to PD patients without axial postural abnormality. Forty-five PD participants were equally distributed in three groups: patients with Pisa syndrome (PS), patients with Camptocormia (CC), and patients without postural abnormalities (PD). Pain characteristics were assessed by Kings Parkinson's Pain Scale (KPPS), brief pain inventory (BPI), and numeric pain rating scale (NRS). All participants completed clinical assessments by non-motor symptom scale (NMSS), and movement disorder society Unified Parkinson's Disease Rating Scale (MDS-UPDRS) parts II-III. Patients with and without axial postural abnormalities showed one or more types of pain, being fluctuation, nocturnal, chronic, and musculoskeletal the most frequently reported in Pisa Syndrome and camptocormia. PD group compared with PS and CC groups showed differences in the KPPS, NMSS, BPI pain severity and interference, and NRS total scores. No significant differences were found between PS group compared with CC group with exception of the NMSS total scores. PD patients with Pisa syndrome or camptocormia have a higher burden of musculoskeletal, chronic and fluctuation pain than PD patients without axial postural abnormalities, suggesting different etiologies of pain and possible different treatments.

Impact of deep brain stimulation therapy on the vertebral sagittal balance in Parkinson's disease patients.

Parkinson's disease (PD) is characterized by cardinal motor signs: 4-6 Hz resting tremor, rigidity, and bradykinesia. In addition, 3-18% of PD patients have camptocormia, an abnormal forward flexion of the thoracolumbar spine, which may have a negative impact on patients' quality of life. Different possible treatments have been suggested for such a condition, but no one is resolutive. This study aims to define the possible impact of DBS, with selective targeting on the dorsal-lateral region of the STN, on the sagittal balance of patients affected by PD. Among all patients that have undergone DBS procedures in our institution, we selected eight subjects, four females and four males, with selective targeting on the dorsal-lateral region of the subthalamic nucleus (STN) because of camptocormia and other severe postural changes. Radiological assessments of spinal balance parameters before surgery and at 6 and 12 months postoperatively were carried out. Comparison of preoperative and postoperative spine X-ray data showed a statistically significant improvement in dorsal kyphosis angle (D-Cobb) 12 months after the operation. Deep brain stimulation with selective targeting of the dorsal lateral part of the STN may induce changes of the posture in patients with Parkinson's disease 12 months after the operation, which appears to improve in this small sample size, but larger observational and controlled trials would be required to confirm this observation.

Efficacy of Deep Brain Stimulation for Camptocormia in Parkinson's Disease: A Systematic Review and Meta-Analysis.

BACKGROUND: Camptocormia is one of the most common postural disorders of Parkinson's disease (PD) which has limited treatment options. In this review, we summarize the efficacy of deep brain stimulation (DBS) for camptocormia in PD. METHODS: The PubMed (https://pubmed.ncbi.nlm.nih.gov/) and EMBASE databases (https://www.embase.com/) were searched for the terms "Parkinson Disease" and "camptocormia" in combination with "deep brain stimulation". We then explored the efficacy of DBS for camptocormia by statistical analysis of the bending angle, the Unified Parkinson's Disease Rating Scale III (UPDRS-III) and L-dopa equivalent daily dose (LEDD), and by evaluating the prognosis after DBS. RESULTS: Twenty articles that reported results for 152 patients were included in this review. These comprised 136 patients from 16 studies who underwent subthalamic nucleus deep brain stimulation (STN-DBS), and 13 patients from 3 studies who underwent globus pallidus internus deep brain stimulation (GPi-DBS). One study used both STN-DBS (2 patients) and GPi-DBS (one patient). After 3-21 months of follow-up, the mean bending angle during the Off-period was significantly reduced compared to pre-DBS (31.5 ± 21.4 vs. 53.6 ± 22.7, respectively; p < 0.0001). For the STN-DBS trials, the mean post-operative bending angles during both Off- and On-periods were significantly reduced compared to pre-operative (32.1 ± 22.7 vs. 55.4 ± 24.1, p = 0.0003; and 33.1 ± 21.5 vs. 43.7 ± 20.6, p = 0.0003, respectively). For GPi-DBS, the mean bending angle post-DBS during the Off-period was considerably lower than pre-DBS (28.5 ± 10.7 vs. 42.9 ± 9.9, p < 0.001). The decrease in bending angle after DBS was negatively correlated with the duration of camptocormia (R = - 0.433, p = 0.013), whereas positively associated with the pre-bending angle (R = 0.352, p = 0.03). CONCLUSIONS: DBS is an effective treatment for camptocormia in PD. Patients in the early stage of camptocormia with more significant bending angle may benefit more from DBS.

Glucocerebrosidase (GBA) gene variants in a multi-ethnic Asian cohort with Parkinson's disease: mutational spectrum and clinical features.

GBA variants are associated with increased risk and earlier onset of Parkinson's disease (PD), and more rapid disease progression especially with "severe" variants typified by p.L483P. GBA mutation screening studies from South-East Asia, with > 650 million inhabitants of diverse ancestries, are very limited. We investigated the spectrum of GBA variants, and associated clinico-demographic features, in a multi-ethnic PD cohort in Malaysia. Patients (n = 496) were recruited from seven centres, primarily of Chinese (45%), Malay (37%), and Indian (13%) ethnicities. All GBA coding exons were screened using a next-generation sequencing-based PD gene panel and verified with Sanger sequencing. We identified 14 heterozygous GBA alleles consisting of altogether 17 missense variants (8 classified as pathogenic or likely pathogenic for PD) in 25 (5.0%) patients, with a substantially higher yield among early (< 50 years) vs. late-onset patients across all three ethnicities (9.1-13.2% vs. 1.0-3.2%). The most common variant was p.L483P (including RecNciI, n = 11, 2.2%), detected in all three ethnicities. Three novel variants/recombinant alleles of uncertain significance were found; p.P71L, p.L411P, and p.L15S(;)S16G(;)I20V. The common European risk variants, p.E365K, p.T408M, and p.N409S, were not detected. A severe disease course was noted in the majority of GBA-variant carriers, across a range of detected variants. We report a potentially novel observation of spine posture abnormalities in GBA-variant carriers. This represents the largest study on GBA variation from South-East Asia, and highlights that these populations, especially those with EOPD, would be relevant for studies including clinical trials targeting GBA pathways.

Outcome of pallidal stimulation of idiopathic generalized dystonia with predominant mobile truncal dystonia: case report.

BACKGROUND: Further reports are required to describe the outcome of truncal dystonia treated by bilateral pallidal stimulation (globus pallidus interna deep brain stimulation [GPi-DBS]), owing to the small number of reports and clinical variability and complexity of truncal dystonia. Retrospectively, we report our experience of treating three patients with idiopathic generalized dystonia, with predominant mobile truncal dystonia by bilateral GPi-DBS. METHODS: Three patients with idiopathic generalized dystonia underwent bilateral GPi-DBS. One patient had adult-onset dystonia, while two patients had childhood-onset dystonia. All patients had predominant mobile truncal dystonia of mixed abnormal postures (camptocormia and lateral tilt), while one patient had also truncal twist. Patients were assessed pre- and post-GPi-DBS using the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) and Dystonia Disability Scale (DDS). RESULTS: The three patients showed marked improvement of global (94.78%, 92.4% and 80.95%) and truncal BFMDRS (all abnormal postures) (87.5%, 93.75% and 87.5%) and DDS (95.84% and 50%), using high amplitude monopolar settings, with a dramatic improvement of the mobile component. Improvement was persistent for 1.5, 3 and 6 years. CONCLUSION: Bilateral GPi-DBS improves markedly the mobile truncal dystonia and associated abnormal postures in patients with adult and childhood-onset idiopathic generalized dystonia. Improvement was persistent for up to 6 years.

Camptocormia in patients with multiple system atrophy at different disease durations: frequency and related factors.

BACKGROUND: Camptocormia is common in patients with multiple system atrophy (MSA). The current study was aimed at assessing the frequency of camptocormia and its related factors in MSA patients with different disease durations. Also, the impact of camptocormia on disability was evaluated. METHODS: A total of 716 patients were enrolled in the study. They were classified into three groups based on disease duration (≤ 3, 3-5, ≥ 5 years). Specific scales were used to evaluate the motor and non-motor symptoms. Disease severity was assessed using the Unified Multiple System Atrophy Rating Scale (UMSARS). The binary logistic regression model was used to explore the factors related to camptocormia. To analyze the impact of camptocormia on disability in patients with disease duration less than 5 years, propensity score matching (PSM) and stratified Cox regression analysis were used. RESULTS: In the current study, we found that the frequency of camptocormia was 8.9, 19.7 and 19.2% when the disease duration was ≤3, 3-5, ≥ 5 years, respectively. In the disease duration ≤3 years group, we found that MSA-parkinsonian subtype (MSA-P) (OR = 2.043, P = 0.043), higher total UMSARS score (OR = 1.063, P < 0.001), older age of onset (OR = 1.047, P = 0.042), and lower score on the frontal assessment battery (FAB) (OR = 0.899, P = 0.046) were associated with camptocormia. Only greater disease severity was associated with camptocormia in the group of patients with disease duration 3-5 years (OR = 1.494, P = 0.025) and in the group of patients with disease duration ≥5 years (OR = 1.076, P = 0.005). There was no significant impact of camptocormia on disability in patients with a disease duration of < 5 years (HR = 0.687, P = 0.463). CONCLUSION: The frequency of camptocormia increased with prolonged disease duration. Disease severity was related to camptocormia at different stages of the disease. The MSA-P subtype, older age of onset, and lower FAB score were associated with camptocormia in the early stage of the disease.

Camptocormia as the presenting symptom in sporadic late onset nemaline myopathy: a case report.

BACKGROUND: Camptocormia has been reported in a plethora of diseases comprising disorders of the central nervous system, the peripheral nervous system, and the neuromuscular junction as well as hereditary and acquired myopathies. In sporadic late onset nemaline myopathy concomitant axial myopathy is common, but reports about camptocormia as the only presenting symptom in this condition are very rare. Notably, sporadic late onset nemaline myopathy is a potentially treatable condition in particular when associated with monoclonal gammopathy of unknown significance, HIV or rheumatological disorders. CASE PRESENTATION: We report the case of a 62-year-old female patient, who presented with slowly progressive camptocormia. Comprehensive work-up including neurological work-up, laboratory tests, MR-imaging, muscle biopsy and genetic testing led to the diagnosis of sporadic late onset nemaline myopathy. CONCLUSIONS: Our case report highlights that sporadic late onset nemaline myopathy has to be considered in patients presenting with isolated camptocormia and comprehensive work-up of camptocormia is mandatory to ascertain the individual diagnosis, especially in consideration of treatable conditions.

A new therapeutic strategy with istradefylline for postural deformities in Parkinson's disease.

AIM OF THE STUDY: Postural deformities are common in Parkinson's disease (PD) patients. Several treatment options have been reported, but responses to these treatments appear unpredictable. Istradefylline is a novel drug for PD. Cases of PD patients whose postural deformities were improved after withdrawal of dopamine agonists and initiation of istradefylline are presented. MATERIALS AND METHODS: Four consecutive patients with postural deformities including antecollis, Pisa syndrome, and camptocormia were recruited and treated with istradefylline in combination with withdrawal of dopamine agonists, which are possible causes of postural deformities. RESULTS: The dopamine agonists were discontinued an average of 26 months after the development of the postural deformities, and istradefylline was initiated an average of 1.3 months after dopamine agonist withdrawal. Three patients with preserved paraspinal muscle volume showed good responses to the treatment regimen at least two months after dopamine agonist withdrawal. CONCLUSIONS AND CLINICAL IMPLICATIONS: Postural deformities caused by dopamine agonists generally improve less than two weeks after dopamine agonist withdrawal. Given the response time in the present study, the response was unlikely to be caused solely by dopamine agonist withdrawal. Istradefylline can be a potential therapeutic option; however, appropriate selection of patients for treatment with istradefylline is warranted.

Case Studies in Neuroscience: A dissociation of balance and posture demonstrated by camptocormia.

Upright stance in humans requires an intricate exchange between the neural mechanisms that control balance and those that control posture; however, the distinction between these control systems is hard to discern in healthy subjects. By studying balance and postural control of a participant with camptocormia - an involuntary flexion of the trunk during standing that resolves when supine - a divergence between balance and postural control was revealed. A kinematic and kinetic investigation of standing and walking showed a stereotyped flexion of the upper body by almost 80° over a few minutes, and yet the participant's ability to control center of mass within the base of support and to compensate for external perturbations remained intact. This unique case also revealed the involvement of automatic, tonic control of the paraspinal muscles during standing and the effects of attention. Although strength was reduced and MRI showed a reduction in muscle mass, there was sufficient strength to maintain an upright posture under voluntary control and when using geste antagoniste maneuvers or "sensory tricks" from visual, auditory, and haptic biofeedback. Dual tasks that either increased or decreased the attention given to postural alignment would decrease or increase the postural flexion, respectively. The custom-made "twister" device that measured axial resistance to slow passive rotation revealed abnormalities in axial muscle tone distribution during standing. The results suggest that the disorder in this case was due to a disruption in the automatic, tonic drive to the postural muscles and that myogenic changes were secondary. NEW & NOTEWORTHY By studying an idiopathic camptocormia case with a detailed biomechanical and sensorimotor approach, we have demonstrated unique insights into the neural control of human bipedalism 1) balance and postural control cannot be considered the same neural process, as there is a stereotyped abnormal flexed posture, without balance deficits, associated with camptocormia, and 2) posture during standing is controlled by automatic axial tone but "sensory tricks" involving sensory biofeedback to direct voluntary attention to postural alignment can override, when required.

Novel variant in the PYGM gene causing late-onset limb-girdle myopathy, ptosis, and camptocormia.

INTRODUCTION: McArdle disease is a glycogen storage disease caused by mutations in the PYGM gene encoding myophosphorylase. It manifests classically with childhood-onset exercise-induced pain. METHODS: We report the characteristics of 2 unrelated patients with a new homozygous mutation of the PYGM gene. RESULTS: Two patients, aged 76 and 79 years, presented with severe upper and lower limb atrophy and weakness. Additionally, 1 patient presented with bilateral ptosis, and the other with camptocormia. In both patients, symptoms had developed progressively in the 2 preceding years, and there was no history of exercise intolerance. Both patients demonstrated myogenic abnormalities on electromyography, multiple glycogen-containing vacuoles and undetectable muscle myophosphorylase activity on muscle biopsy, and a novel homozygous frameshift p.Lys42Profs*48 PYGM mutation. CONCLUSIONS: This report expands the phenotype and genotype of McArdle disease and suggests that PYGM mutations should be looked for in patients with very late-onset myopathy with no previous history of exercise intolerance. Muscle Nerve 57: 157-160, 2018.

Body height loss characterizes camptocormia in Parkinson's disease.

Axial deformities such as camptocormia or Pisa syndrome in people with Parkinson's disease (PwP) are poorly understood. The scarcity of information may result from the shortage of reliable and responsive evaluation instruments. We evaluated the body height loss (BHL) as a new measure for PwP with axial deformities. 50 PwP with axial deformity defined by an UPDRS item 28 value of at least 2 were included in this mono-center study. We measured body height while lying supine and after 1 min of standing, providing a percentage value of BHL, and compared this measure to other clinical variables. BHL depended on the Hoehn and Yahr clinical stage and correlated with clinical scales for function and mobility, but not with timely measures of the axial disorder such as age at diagnosis or duration of disease. ANOVA showed that only lumbar flexion explained the variability of BHL (F = 21.0, p < 0.0001), but not kyphosis (F = 0.4, p = 0.74) or lateroflexion (F = 0.6, p = 0.6). Re-test reliability of BHL was good with к = 0.76 (p < 0.0001). BHL resulted from the lumbar spine and the hip joint and not from the thoracic spine or lateroflexion. This observation conforms to the concept of upper-type and lower-type camptocormia with only the latter leading to a BHL. The assessment of the BHL is shown to be a well defined, easy to perform, and reliable measure for the clinical evaluation of lower-type camptocormia.

Subthalamic deep brain stimulation and trunk posture in Parkinson's disease.

OBJECTIVES: We sought to assess the efficacy of subthalamic nucleus deep brain stimulation (STN-DBS) in Parkinson's disease (PD)-associated trunk posture abnormalities retrospectively analyzing data from 101 patients reporting mild-to-severe trunk posture abnormalities of a cohort of 216 PD patients treated with STN-DBS at our center. METHODS: Abnormal trunk posture was rated on a scale of 0 (normal) to 4 (marked flexion with an extreme abnormality of posture) as per the grading score reported in the Unified Parkinson's Disease Rating Scale. The independent effect of STN-DBS on trunk posture was assessed comparing Medication-Off (presurgery) vs Stimulation-On/Medication-Off (post-surgery). The combined effect of STN-DBS plus levodopa was evaluated comparing Medication-On (presurgery) vs Stimulation-On/Medication-On (post-surgery). Analyses were conducted considering both the entire cohort of patients and the subgroup with camptocormia (CMC) and Pisa syndrome (PS). RESULTS: The independent effect of STN-DBS resulted in a 41.4% improvement in abnormal trunk posture severity (P < .001), with 78.2% of patients (n = 79) reporting an improvement of at least 1 point. The combined effect of STN-DBS and levodopa resulted in a 30.9% improvement (P = .061), with 54.5% of patients (n = 55) reporting an improvement of at least 1 point. The subanalysis of patients with CMC (n = 23) and PS (n = 5) showed a 42.7% improvement in abnormal posture severity when considering the independent effect of STN-DBS (P < .001) and 30.5% when considering the combined effect of STN-DBS and levodopa (P < .001). CONCLUSIONS: STN-DBS may have the potential for improving posture in patients with advanced PD.

Surgical treatment of spinal disorders in Parkinson's disease.

PURPOSE: Most patients suffering from Parkinson's disease (PD) exhibit alterations in the posture, which can in several cases give rise to spine deformities, both in the sagittal and the coronal plane. In addition, degenerative disorders of the spine frequently associated to PD, such as spinal stenosis and sagittal instability, can further impact the quality of life of the patient. In recent years, spine surgery has been increasingly performed, with mixed results. The aim of this narrative review is to analyze the spinal disorders associated to PD, and the current evidence about their surgical treatment. METHODS: Narrative review. RESULTS: Camptocormia, i.e., a pronounced flexible forward bending of the trunk with 7% prevalence, is the most reported sagittal disorder of the spine. Pisa syndrome and scoliosis are both common and frequently associated. Disorders to the spinopelvic alignment were not widely investigated, but a tendency toward a lower ability of PD patients to compensate the sagittal malalignment with respect to non-PD elderly subjects with imbalance seems to emerge. Spine surgery in PD patients showed high rates of complications and re-operations. CONCLUSIONS: Disorders of the posture and spinal alignment, both in the sagittal and in the coronal planes, are common in PD patients, and have a major impact on the quality of life. Outcomes of spine surgery are generally not satisfactory, likely mostly due to muscle dystonia and poor bone quality. Knowledge in this field needs to be consolidated by further clinical and basic science studies. These slides can be retrieved under Electronic Supplementary Material.

Bent spine syndrome as the initial symptom of late-onset Pompe disease.

INTRODUCTION: Late-onset Pompe disease (LOPD) is a rare disorder characterized by progressive proximal muscle weakness and early respiratory insufficiency, for which enzyme replacement therapy (ERT) is available. METHODS: Having diagnosed a case of LOPD presenting with bent spine syndrome, we conducted a brief survey in the French centers involved in management of Pompe disease, from which we collected data on 3 other cases. RESULTS: The patients (3 women and 1 man) had a mean age of 64 years (range 51-77 years) and a delay in diagnosis of approximately 10 years (range 8-42 years). At diagnosis, 3 patients already had respiratory symptoms. All had normal or very mildly raised creatine kinase levels and magnetic resonance imaging abnormalities in the paraspinal muscles. They exhibited the most frequent mutation in Pompe disease (c.-32-13 T>G). CONCLUSION: Clinicians should be aware of this atypical presentation of LOPD to enable earlier diagnosis and treatment. Muscle Nerve 56: 167-170, 2017.

A case report of thoracolumbar paraspinal myopathy as the cause of camptocormia in a patient with atypical parkinsonism.

BACKGROUND: Camptocormia is severe flexion of the thoracolumbar spine, exaggerated during standing and walking but minimized in supine position. Even though camptocormia is a relatively common condition during the course of Parkinson's disease, there is ongoing controversy concerning its mechanisms. The most widely accepted and yet still disputed one is dystonia. However, based on myopathic changes observed in the paraspinal muscle biopsies of some PD patients with camptocormia, the attempt to attribute camptocormia to myopathy has continued. This case presents evidence for paraspinal myopathy as the cause of camptocormia in a patient with atypical parkinsonism. CASE PRESENTATION: A patient presented with a relatively acute onset of camptocormia and new-onset back pain. Upon examination, she had asymmetric parkinsonism. Magnetic resonance imaging of the lumbar spine revealed alterations in muscle signal intensity in the right paraspinal muscles at the L1-2 level. In the presence of persistent back pain, repeat imaging done two months later showed diffuse enlargement and patchy enhancement of the paraspinal muscles on T1-weighted imaging from T4 through sacrum bilaterally. About fifteen months after the onset of camptocormia, she underwent ultrasound-guided gun biopsy of the paraspinal muscles for evaluation of focal atrophy of the back muscles on the right. The biopsy revealed unmistakable myopathic changes, marked endomysial and perimysial fibrosis of the muscles, and merely mild infiltration of inflammatory cells but no clues regarding the cause of myopathy. On account of persistent back pain and MRI results indicative of ongoing inflammation, she was prescribed glucocorticoid, which she refused to take. Now merely two and a half years after the onset of camptocormia, she is in Hoehn and Yahr stage 4. CONCLUSIONS: The coincidence of back pain with the appearance of camptocormia and the imaging and pathology findings supportive of myopathy give strong evidence for paraspinal myopathy as the cause of the deformity in this patient. When a patient presents with a relatively acute onset of camptocormia accompanied by back pain, the clinician should not overlook the possibility of myopathy of paraspinal muscles, which may be one of the few treatable causes of camptocormia.

Effectiveness of spinal cord stimulation for painful camptocormia with Pisa syndrome in Parkinson's disease: a case report.

BACKGROUND: Spinal cord stimulation (SCS) has recently been reported to be effective for truncal postural abnormalities such as camptocormia and Pisa syndrome in Parkinson's disease. In this case report, we describe a case of a woman with Parkinson's disease in whom SCS was effective for painful camptocormia with Pisa syndrome. CASE PRESENTATION: A 65-year-old woman was admitted to our hospital because of painful camptocormia. She had noticed resting tremor in the left upper limb and aprosody at 48 years of age. She was diagnosed as having Parkinson's disease (Hoehn & Yahr stage 1) at 53 years of age. Cabergoline was started during that same year, with subsequent addition of selegiline hydrochloride; the symptoms of parkinsonism disappeared. Wearing-off occurred when she was 57 years old, 3 years after starting carbidopa/levodopa, and truncal postural abnormalities-painful camptocormia with Pisa syndrome to the right-appeared at 58 years of age. These symptoms worsened despite adjustment of her oral medications, and deep brain stimulation (DBS) was performed when she was 60 years old. The truncal postural abnormalities improved after DBS, and she could travel abroad at 61 years of age. However, from 62 years of age, painful camptocormia with Pisa syndrome to the right reappeared. The pain was unsuccessfully treated with oral analgesics, radiofrequency coagulation of the dorsal and medial branches of the lumbar spinal nerve, and lumbar epidural block. Finally, SCS was performed for the pain relief. The pain disappeared immediately after SCS and her posture then gradually improved. Unified Parkinson's Disease Rating Scale score improved from 48 to 34 points and Timed Up and Go Test improved from 15 s to 7 s after SCS. CONCLUSIONS: This case suggests that SCS may be effective for improving painful truncal postural abnormalities and motor complications of Parkinson's disease. Pain relief or a direct effect on the central nervous system by SCS was considered to explain the alleviation of these symptoms.

Therapy-resistant symptoms in Parkinson's disease.

In recent years, the management of Parkinson's disease (PD) has come a long way, leading to an increase in therapeutic options that now include oral and transdermal drug delivery, infusion as well as surgical treatments. Nonetheless, in the evolution of this complex neurodegenerative disorder, several symptoms remain refractory to dopaminergic therapy. It is our aim to review the literature to date and to bring them into focus, as well as emphasizing on pathophysiological mechanisms, profile of risk factors in their development, and therapeutic options. We will focus on freezing of gait, camptocormia, dysphagia and dysphonia, as well as cognitive impairment and dementia because they represent the far end of therapy-resistant symptoms, encompassing poor health-related quality of life and often a more reserved prognosis with either a rapid evolution of the disease, and/or merely a more severe clinical picture. Pathophysiological mechanisms and brain neurotransmitter abnormalities behind these symptoms seem to overlap to some extent, and a better understanding of these correlations is desirable. We believe that further research is paramount to expand our knowledge of the dopamine-resistant symptoms and, consequently, to develop specific therapeutic strategies.